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Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

Overview of attention for article published in Genome Medicine, September 2012
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (89th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (62nd percentile)

Mentioned by

blogs
1 blog
twitter
8 X users

Citations

dimensions_citation
28 Dimensions

Readers on

mendeley
76 Mendeley
citeulike
2 CiteULike
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Title
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease
Published in
Genome Medicine, September 2012
DOI 10.1186/gm374
Pubmed ID
Authors

Alejandro Sifrim, Jeroen KJ Van Houdt, Leon-Charles Tranchevent, Beata Nowakowska, Ryo Sakai, Georgios A Pavlopoulos, Koen Devriendt, Joris R Vermeesch, Yves Moreau, Jan Aerts

Abstract

ABSTRACT: The increasing size and complexity of exome/genome sequencing data requires new tools for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the causative variation include poor cross-sample querying, constantly changing functional annotation and not considering existing knowledge concerning the phenotype. We describe a methodology that facilitates exploration of patient sequencing data towards identification of causal variants under different genetic hypotheses. Annotate-it facilitates handling, analysis and interpretation of high-throughput single nucleotide variant data. We demonstrate our strategy using three case studies. Annotate-it is freely available and test data are accessible to all users at http://www.annotate-it.org.

X Demographics

X Demographics

The data shown below were collected from the profiles of 8 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Belgium 5 7%
United States 3 4%
United Kingdom 2 3%
Italy 1 1%
Sweden 1 1%
France 1 1%
Germany 1 1%
Spain 1 1%
India 1 1%
Other 0 0%
Unknown 60 79%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 22 29%
Researcher 17 22%
Other 7 9%
Professor > Associate Professor 7 9%
Student > Bachelor 5 7%
Other 17 22%
Unknown 1 1%
Readers by discipline Count As %
Agricultural and Biological Sciences 32 42%
Computer Science 13 17%
Medicine and Dentistry 13 17%
Biochemistry, Genetics and Molecular Biology 11 14%
Engineering 2 3%
Other 3 4%
Unknown 2 3%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 13. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 December 2013.
All research outputs
#2,803,476
of 25,374,917 outputs
Outputs from Genome Medicine
#641
of 1,585 outputs
Outputs of similar age
#19,625
of 190,797 outputs
Outputs of similar age from Genome Medicine
#6
of 16 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,585 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.8. This one has gotten more attention than average, scoring higher than 59% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 190,797 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 62% of its contemporaries.